Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383047 | SCV001582064 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2020-06-22 | criteria provided, single submitter | clinical testing | Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). This sequence change creates a premature translational stop signal (p.Thr145Ilefs*27) in the GALC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a positive newborn screening result for GALC-related disease (PMID: 26795590). For these reasons, this variant has been classified as Pathogenic. |